Rare Disease Companies Unite to Advocate for Life-Changing Therapies

Acquisition Puzzle Pieces

There are more than 7,000 rare diseases identified in the world today. While “rare” means that less than 200,000 people in the US are affected, to suffer from a rare disease is not actually rare at all. 

Around 10% of the American population suffers from a rare disease. A shocking 90% of rare diseases do not have an approved treatment on the market. 

first-of-its-kind organization launched today unifying the voices of life science companies committed to delivering desperately needed treatments to rare disease patients. The Rare Disease Company Coalition’s 10 founding members have brought 22 treatments to market and currently have more than 160 rare disease programs in the works. 

Life science companies that commit to rare diseases do so knowing that their drug, if approved, will never be a “blockbuster” treatment due to the low patient population. They do it understanding that clinical trials will be difficult to enroll, and the process from IND to approval can take up to 4 years longer than it would for a less rare disease.  

In 2020, Rare Disease Company Coalition members invested over $4.1 billion in R&D for rare diseases. These diseases are devastating and often life-threatening, with 80% genetic, 50% occurring in children - fatal before age 5 in 30% of those children. 

With pressure from patients and advocacy groups, Congress initiated the Orphan Drug Act in 1983, providing potential incentives to companies developing candidates intended to treat a rare disease. Since then, over 500 orphan drugs have been FDA approved.  

Companies in the coalition include those who have had medications approved and those still working for approval. 

Sarepta Therapeutics has three drugs approved by the FDA for the treatment of Duchenne Muscular Dystrophy, a rare genetic disease that affects boys near exclusively and causes progressive weakness. While there is currently no cure, Sarepta’s treatments help slow the progression of the disease. Recent Phase II trial results for another contender for patients with exon 51 skipping showed more significant promise than the company’s currently approved Exondys 51. 

Ultragenyx also has three drugs approved by the FDA for Sly Syndrome, a metabolic disorder and a disease that makes the body unable to store phosphorous. Last month the company scored FDA clearance for its IND application for an mRNA therapy to treat glycogen storage disease type III. 

In collaboration with Bristol Myers Squibb, Acceleron snagged the first and only approved erythroid maturation agent for the treatment of chronic anemia in myelofibrosis. The company is currently developing a candidate for pulmonary hypertension, for which they received Orphan Drug Designation in 2019.  

While Orchard Therapeutics snagged approval in the EU for two of its therapies – Libmeldy for MLD and Strimvelis for severe combined immunodeficiency due to adenosine deaminase deficiency – approval in the US has not yet been granted. The company’s pipeline is stacked with trials for other disease indications, moving hopefully toward approval.  

Member company Harmony Biosciences has an approved drug for narcolepsy, while fellow founders Aeglea Biotherapeutics, Agios Pharmaceuticals, Orphazyme, and Taysha Gene Therapies are still advancing pipelines towards that ultimate goal. 

Leading the way with RNA interference medicines, Alnylam Pharmaceuticals has seen three of its therapeutics approved – Onpattro for polyneuropathy caused by hATTR, Givlaari for acute hepatic porphyria, and Oxlumo, the first ever approved therapy for primary hyperoxaluria type 1 (PH1). 

A month after a kidney transplant, Hunter Meyer was diagnosed with PH1, a genetic disease that leads to a buildup of oxalate, which is normally filtered through the kidneys. The six-year-old boy went through two weeks of CRRT, followed by daily, 6-hour hemodialysis treatments.  

“Call it what you will, I call it fate, but the same day we got the genetic test results back saying he had PH1, was the same day Oxlumo was approved by the FDA in the United States. This has given Hunter a quality of life back. He went from traveling an hour to the dialysis unit every single day and sitting in a hospital chair for 6 hours a day, to no dialysis and his dialysis line removed. His mental state has improved drastically. The nurses at the dialysis unit even noticed that he was becoming withdrawn and didn’t interact with them anymore. Now he’s active and playing like a normal 7-year-old,” Hunter’s mom, Brittany Meyer told BioSpace. 

After Hunter’s diagnosis, his little brother was tested and also diagnosed with PH1. He will start his treatment with Oxlumo at the end of the month. 

Meyer ended with, “I could not thank the companies that take on rare disease treatments enough. My gratitude is overwhelming. It restores some faith in humanity knowing that there are companies taking things like this on just for people’s lives, knowing it won’t be a “big seller” since it’s for a rare disease.” 

In the coming months, the Rare Disease Company Coalition will "engage with policy stakeholders on potentially impactful drug and healthcare policies and regulations currently under discussion, including prescription drug pricing, to highlight the consequences that blanket legislation can have on continued innovation for rare disease treatments.” 

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